title: Molecular characterization of delta beta-thalassemia and hereditary persistence of fetal hemoglobin in the Indian population.
abstract: delta beta-Thalassemia (delta beta-thal) and hereditary persistence of fetal hemoglobin (HPFH) are heterogeneous disorders characterized by elevated levels of Hb F in adult life. The two disorders should not be considered as unambiguously separate entities but rather as a group of disorders with a variety of partially overlapping phenotypes. This study was undertaken to determine the hematological and molecular characteristics of high Hb F determinants among Indians. A gap-polymerase chain reaction (gap-PCR)-based approach was used for molecular characterization of high Hb F phenotypes. Fifty-five unrelated individuals were studied. The molecular findings were correlated with the hematological data. DNA analysis identified the deletion-inversion (G)gamma((A)gamma delta beta)(0)-thal in 15 cases (27%) and the HPFH-3 (Indian deletion) determinant in 26 cases (47.2%) and the Vietnamese/Chinese determinant (27 kb deletion) in five cases (9%), which is being reported for the first time from India; 16% (nine cases) of the samples remained uncharacterized. This study emphasizes that delta beta-thal and HPFH determinants are common in India. Molecular analysis will aid in understanding genotype-phenotype correlations and will facilitate prevention and control programs of thalassemia and hemoglobinopathies in this region.
authors.affiliation: Institute of Immunohaematology, Indian Council of Medical Research (ICMR), Mumbai, India.
authors.forename: Anita
authors.initials: A
authors.lastname: Nadkarni
authors.forename: Marukh
authors.initials: M
authors.lastname: Wadia
authors.forename: Ajit
authors.initials: A
authors.lastname: Gorakshakar
authors.forename: Ryoiti
authors.initials: R
authors.lastname: Kiyama
authors.forename: Roshan B
authors.initials: RB
authors.lastname: Colah
authors.forename: Dipika
authors.initials: D
authors.lastname: Mohanty
mesh_terms: D000293:Adolescent; D000328:Adult; D005319:Fetal Hemoglobin / Q000032:analysis / Q000737:chemistry* / Q000235:genetics*; D006801:Humans; D007194:India / Q000453:epidemiology; D008875:Middle Aged; D055815:Young Adult; D017086:beta-Thalassemia / Q000453:epidemiology* / Q000235:genetics; D055538:delta-Thalassemia / Q000453:epidemiology* / Q000235:genetics
chemical_list: D005319:Fetal Hemoglobin